AiPD: Autoinhibited Protein Database

Q15853

Gene name	USF2 (BHLHB12)
Protein name	Upstream stimulatory factor 2
Names	Class B basic helix-loop-helix protein 12, bHLHb12, FOS-interacting protein, FIP, Major late transcription factor 2, Upstream transcription factor 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7392
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

188-263 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

188-263 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

2 structures for Q15853

Entry ID	Method	Resolution	Chain	Position	Source
8IA3	X-ray	350 A	A/B/E/F	235-346	PDB
AF-Q15853-F1	Predicted				AlphaFoldDB

268 variants for Q15853

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000149149 CA174452 COSM1179634 rs193920819	166	R>Q	Malignant tumor of prostate prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1599618064 CA405292736	2	D>A		No	ClinGen Ensembl
rs979598371 CA307723844	3	M>I		No	ClinGen Ensembl
rs777702044 CA9375265	3	M>T		No	ClinGen ExAC gnomAD
rs1481979690 CA405292776	5	D>A		No	ClinGen gnomAD
CA405292772 rs1236601406	5	D>H		No	ClinGen TOPMed gnomAD
CA405292790 rs1411983823	6	P>S		No	ClinGen TOPMed
CA405292804 rs1173022597	7	G>A		No	ClinGen TOPMed
rs1173022597 CA405292803	7	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA405292812 rs1379260920	8	L>Q		No	ClinGen TOPMed
CA405292809 rs1599618148	8	L>V		No	ClinGen Ensembl
CA405292838 rs1176760655	10	P>L		No	ClinGen TOPMed
rs1290368087 CA405292844	11	A>T		No	ClinGen gnomAD
CA405292862 rs1178730024	12	A>D		No	ClinGen TOPMed
CA405292859 rs1200142261	12	A>T		No	ClinGen TOPMed gnomAD
rs1256391454 CA405292873	13	S>L		No	ClinGen TOPMed
rs1276800999 CA405292868	13	S>P		No	ClinGen gnomAD
CA405292877 rs1443891651	14	A>T		No	ClinGen gnomAD
rs1208043625 CA405292885	14	A>V		No	ClinGen TOPMed
CA405292891 rs1349471682	15	T>S		No	ClinGen TOPMed
rs1211340845 CA405292899	16	A>T		No	ClinGen gnomAD
rs1024571866 CA307723848	16	A>V		No	ClinGen TOPMed gnomAD
rs970367311 CA307723869	19	A>T		No	ClinGen TOPMed gnomAD
CA405292951 rs1312531700	20	A>G		No	ClinGen TOPMed
rs1363917693 CA405292948	20	A>S		No	ClinGen TOPMed gnomAD
rs1363917693 CA405292944	20	A>T		No	ClinGen TOPMed gnomAD
rs1412984485 CA405292962	21	S>N		No	ClinGen TOPMed
CA9375280 rs778571672	22	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA9375279 rs754612332	22	H>Y		No	ClinGen ExAC gnomAD
CA405293028 rs1291617505	23	D>G		No	ClinGen TOPMed
rs868455019 CA307723997	23	D>Y		No	ClinGen Ensembl
CA405293046 rs1355629120	24	K>N		No	ClinGen gnomAD
rs752152401 CA9375281	24	K>R		No	ClinGen ExAC TOPMed gnomAD
CA307724000 rs752152401	24	K>T		No	ClinGen ExAC TOPMed gnomAD
CA307724008 rs777135887	25	G>E		No	ClinGen ExAC TOPMed gnomAD
CA9375282 rs757994644	25	G>R		No	ClinGen ExAC gnomAD
rs777135887 CA9375283	25	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1468628205 CA405293062	26	P>S		No	ClinGen TOPMed gnomAD
rs1245850553 CA405293078	27	E>D		No	ClinGen gnomAD
CA9375284 rs374238178	28	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200773644 CA9375285	29	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1457900753 CA405293126	31	G>D		No	ClinGen gnomAD
CA405293120 rs1234088151	31	G>S		No	ClinGen gnomAD
rs781164536 CA405293132	32	V>I		No	ClinGen ExAC gnomAD
rs781164536 CA9375286	32	V>L		No	ClinGen ExAC gnomAD
CA405293139 rs1348320084	33	E>K		No	ClinGen TOPMed
rs1462048055 CA405293158	36	E>K		No	ClinGen gnomAD
CA9375319 rs751127602	37	G>D		No	ClinGen ExAC TOPMed gnomAD
rs767127112 CA9375321	39	D>G		No	ClinGen ExAC gnomAD
CA307724124 rs916659768	40	G>D		No	ClinGen TOPMed
CA405293197 rs1282966542	40	G>R		No	ClinGen gnomAD
CA405293202 rs1306446947 COSM1524749	41	P>A	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs750430636 CA9375322	43	A>T		No	ClinGen ExAC gnomAD
TCGA novel	44	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405293218 rs1411717303	44	E>K		No	ClinGen TOPMed
CA9375323 rs755980897	45	E>D		No	ClinGen ExAC TOPMed gnomAD
CA405293242 rs1302189707	47	T>A		No	ClinGen TOPMed
CA405293246 rs1436394439	47	T>R		No	ClinGen gnomAD
CA405293247 rs1177872293	48	A>T		No	ClinGen gnomAD
rs779933707 COSM1231908 CA9375324	48	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1175246327 CA405293262	50	A>V		No	ClinGen TOPMed gnomAD
rs867189214 CA307724139	54	V>A		No	ClinGen Ensembl
CA9375329 rs771058625	62	H>D		No	ClinGen ExAC TOPMed gnomAD
CA405293343 rs1303724217	62	H>R		No	ClinGen gnomAD
CA405293340 rs771058625	62	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1228133537 CA405293347	63	N>H		No	ClinGen gnomAD
CA9375331 rs746426240	64	I>V		No	ClinGen ExAC gnomAD
CA405293378 rs981896212	67	Q>*		No	ClinGen TOPMed gnomAD
rs981896212 CA307724143	67	Q>E		No	ClinGen TOPMed gnomAD
rs770157891 COSM994919 CA9375332	69	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA405293394 rs1195676112	69	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA405293412 rs1421554401	72	T>A		No	ClinGen gnomAD
rs774209183 CA9375336	73	N>K		No	ClinGen ExAC gnomAD
CA405293424 rs1163422090	74	G>R		No	ClinGen gnomAD
rs761542150 CA9375337	75	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1284603030 CA405293430	75	G>R		No	ClinGen TOPMed gnomAD
rs1326084966 CA405293436	76	Q>E		No	ClinGen gnomAD
rs1482533972 CA405293439	76	Q>R		No	ClinGen TOPMed
rs1183366311 CA405293483	81	V>L		No	ClinGen gnomAD
CA405293493 rs1233082179	83	Q>K		No	ClinGen gnomAD
rs1599620672 CA405293503	84	V>L		No	ClinGen Ensembl
CA405293520 rs1246753337	86	D>E		No	ClinGen TOPMed
CA405293514 rs1599620681	86	D>H		No	ClinGen Ensembl
rs1477529917 CA405293521	87	G>S		No	ClinGen TOPMed gnomAD
rs1599620704 CA405293534	88	Q>H		No	ClinGen Ensembl
TCGA novel	88	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1393708738 CA405293530	88	Q>P		No	ClinGen gnomAD
rs749804522 CA405293536	89	L>V		No	ClinGen ExAC TOPMed gnomAD
CA405293548 rs1174743813	91	G>C		No	ClinGen TOPMed gnomAD
rs1331054477 CA405293585	96	A>D		No	ClinGen gnomAD
CA307724342 rs543449268	97	G>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA307724345 rs1036598552	98	A>T		No	ClinGen TOPMed gnomAD
rs1299781845 CA405293596	98	A>V		No	ClinGen TOPMed
CA405293602 rs1330360660	99	V>A		No	ClinGen TOPMed
rs1005489302 CA307724348	104	T>S		No	ClinGen TOPMed
CA405293639 rs1356503392	105	A>G		No	ClinGen TOPMed gnomAD
CA307724352 rs1023619519	105	A>S		No	ClinGen TOPMed gnomAD
CA307724355 rs969415814	106	A>T		No	ClinGen TOPMed gnomAD
CA405293651 rs1197031194	107	F>L		No	ClinGen gnomAD
rs1450662692 CA405293669	110	G>V		No	ClinGen TOPMed gnomAD
CA405293691 rs1191306963	113	A>G		No	ClinGen gnomAD
rs1453490160 CA405293688	113	A>P		No	ClinGen TOPMed
CA9375357 rs771804118	114	V>A		No	ClinGen ExAC gnomAD
rs1269906132 CA405293698	115	T>P		No	ClinGen TOPMed
rs994925567 CA405293719	118	G>C		No	ClinGen TOPMed
rs994925567 CA307724359	118	G>S		No	ClinGen TOPMed
rs1276672956 CA405293726	119	V>A		No	ClinGen TOPMed
rs1027383711 CA307724363	119	V>M		No	ClinGen gnomAD
rs1344224353 CA405293751	123	A>S		No	ClinGen TOPMed
CA405293754 rs1272802948	123	A>V		No	ClinGen TOPMed
rs111781333 CA307724366	124	Q>E		No	ClinGen Ensembl
rs1194718968 CA405293765	125	R>H		No	ClinGen TOPMed gnomAD
CA307724369 rs995847619	127	G>A		No	ClinGen gnomAD
rs995847619 CA405293777	127	G>V		No	ClinGen gnomAD
rs927779764 CA307724380	128	P>S		No	ClinGen TOPMed
rs1599621027 CA405293784	129	A>T		No	ClinGen Ensembl
CA405293791 rs1371936328	130	A>S		No	ClinGen TOPMed
rs1169706409 CA405293808	133	V>M		No	ClinGen gnomAD
rs1410959742 CA405293819	134	P>L		No	ClinGen TOPMed
CA9375359 rs555503800	135	P>S		No	ClinGen ExAC TOPMed gnomAD
rs142459461 CA307724910	145	V>M		No	ClinGen ESP TOPMed gnomAD
CA9375399 rs769726179	147	Q>H		No	ClinGen ExAC gnomAD
CA9375400 rs775471907	149	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1641126 CA405294047 rs1394201893	151	S>N	stomach [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs368496403 CA9375402	151	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA405294055 rs1184627505	152	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1464690381 CA405294084	156	P>L		No	ClinGen TOPMed
CA405294082 rs1464690381	156	P>Q		No	ClinGen TOPMed
rs892470977 CA307724939	157	A>P		No	ClinGen TOPMed gnomAD
rs892470977 CA405294085	157	A>T		No	ClinGen TOPMed gnomAD
CA405294088 rs1207048850	157	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA405294096 rs1361550595	159	E>K		No	ClinGen TOPMed
CA9375407 rs755179671	160	A>D		No	ClinGen ExAC gnomAD
CA9375406 rs748740602	160	A>T		No	ClinGen ExAC TOPMed gnomAD
CA405294120 rs1370663080	162	S>R		No	ClinGen gnomAD
CA9375408 rs765398782	163	G>R		No	ClinGen ExAC gnomAD
CA405294127 rs1283016548	164	E>K		No	ClinGen gnomAD
rs372626837 CA9375410	165	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372626837 CA9375409	165	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1203870304 CA405294144	167	F>L		No	ClinGen gnomAD
rs1382494953 CA405294151	168	A>T		No	ClinGen TOPMed
TCGA novel	168	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1389541521 CA405294161	169	Y>C		No	ClinGen TOPMed
TCGA novel	171	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143950345 CA9375411	171	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747352642 CA307725006	172	A>S		No	ClinGen ExAC gnomAD
rs747352642 CA9375412	172	A>T		No	ClinGen ExAC gnomAD
CA405294181 rs1425963674	172	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA307725010 rs1040069298	173	S>P		No	ClinGen TOPMed gnomAD
rs780754922 CA9375414	174	S>G		No	ClinGen ExAC gnomAD
rs745514041 CA9375415	176	G>E		No	ClinGen ExAC gnomAD
CA9375418 rs749219730	178	T>N		No	ClinGen ExAC TOPMed gnomAD
CA9375417 rs774955846	178	T>S		No	ClinGen ExAC gnomAD
CA9375419 rs768595636	179	T>A		No	ClinGen ExAC TOPMed gnomAD
CA405294219 rs774035837	179	T>K		No	ClinGen ExAC gnomAD
CA9375420 rs774035837	179	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1324723134 CA405294223	180	A>S		No	ClinGen gnomAD
CA9375422 rs377120409	181	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs28365138 CA307725069	183	V>G		No	ClinGen Ensembl
CA9375424 rs759815013	183	V>I		No	ClinGen ExAC gnomAD
CA405294254 rs1214446211	185	T>S		No	ClinGen gnomAD
CA9375426 rs373379664	186	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA405294292 rs1272772703	191	Q>K		No	ClinGen gnomAD
CA9375428 rs764602073	192	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1353598373 CA405294334	195	Q>R		No	ClinGen gnomAD
CA9375460 rs746745001	196	F>Y		No	ClinGen ExAC gnomAD
CA9375462 rs775846053	198	V>I		No	ClinGen ExAC gnomAD
CA405294364 rs1471108642	199	M>I		No	ClinGen TOPMed
CA9375463 rs763069146	200	M>V		No	ClinGen ExAC gnomAD
CA9375466 rs762338414	204	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1182351067 CA405294408	206	L>V		No	ClinGen TOPMed
CA9375468 rs563307201	207	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405294432 rs1231302409	209	G>E		No	ClinGen TOPMed gnomAD
CA9375470 rs766640758	211	Q>P		No	ClinGen ExAC gnomAD
CA9375471 rs753576519	213	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752209084 CA9375475	216	P>R		No	ClinGen ExAC gnomAD
rs201560339 CA9375477	217	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769279094	217	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA9375476 rs201560339	217	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405294480 rs1335009480	218	T>A		No	ClinGen gnomAD
rs139781881 CA9375478	220	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1440232153 CA405294495	220	P>S		No	ClinGen gnomAD
CA405294511 rs1233314713	222	S>F		No	ClinGen gnomAD
CA405294513 rs1278088095	223	P>A		No	ClinGen gnomAD
CA9375479 COSM565460 rs757173577	223	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1181075910 CA405294593	225	I>M		No	ClinGen gnomAD
CA307725605 rs1047533275	226	D>G		No	ClinGen TOPMed gnomAD
CA405294620 rs1185975968	227	G>V		No	ClinGen gnomAD
CA307725608 rs929262031	228	T>N		No	ClinGen gnomAD
TCGA novel	229	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757343192 CA9375548	229	R>T		No	ClinGen ExAC gnomAD
rs529219305 CA307725617	230	T>S		No	ClinGen Ensembl
rs887814129 CA307725621	231	P>S		No	ClinGen TOPMed
rs140499717 CA405294669	232	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA405294672 rs1218000182	232	R>Q		No	ClinGen TOPMed
rs1374835641 CA405294689	233	D>E		No	ClinGen gnomAD
rs1568457576 CA405294709	235	R>G		No	ClinGen Ensembl
rs1432320211 CA405294712	235	R>K		No	ClinGen gnomAD
CA9375552 rs780583886	237	R>K		No	ClinGen ExAC TOPMed gnomAD
CA9375553 rs749605548	238	A>T		No	ClinGen ExAC gnomAD
CA405294757 rs1315462178	240	H>R		No	ClinGen TOPMed
CA405294769 rs1347878390	242	E>K		No	ClinGen gnomAD
rs1320119248 CA405295771	260	K>N		No	ClinGen gnomAD
rs779170568 CA9375595	264	D>E		No	ClinGen ExAC TOPMed gnomAD
CA307732824 rs368595372	267	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9375597 rs368595372	267	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs746655773 CA9375598	268	D>A		No	ClinGen ExAC TOPMed gnomAD
CA307732836 rs868523437	268	D>E		No	ClinGen Ensembl
rs746655773 CA307732827	268	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1247213268 CA405295853	272	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9375600 rs780652712	273	G>A		No	ClinGen ExAC gnomAD
rs770480113 CA9375599	273	G>R		No	ClinGen ExAC gnomAD
rs1477880598 CA405295859	274	A>T		No	ClinGen gnomAD
rs745834456 CA9375601	274	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1193802654 CA405296341	282	K>E		No	ClinGen TOPMed
rs753231177 CA9375664	288	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA405296430 rs1173274317	289	E>Q		No	ClinGen gnomAD
CA405296448 rs1599636279	291	R>C		No	ClinGen Ensembl
CA9375666 rs779062840	291	R>H		No	ClinGen ExAC TOPMed gnomAD
rs540944210 CA307733198	294	N>K		No	ClinGen Ensembl
CA9375667 rs748085813	294	N>S		No	ClinGen ExAC gnomAD
rs1014141298 CA307733204	296	R>H		No	ClinGen TOPMed gnomAD
rs200122252 CA307733205	303	E>K		No	ClinGen 1000Genomes
CA307733223 rs1014868247	305	E>A		No	ClinGen gnomAD
rs1269133583 CA405296619	305	E>D		No	ClinGen gnomAD
rs1014868247 CA405296616	305	E>G		No	ClinGen gnomAD
CA405296610 rs1332824568	305	E>K		No	ClinGen TOPMed gnomAD
CA9375671 rs769863714	306	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs201285877 CA307733255	308	Q>P		No	ClinGen Ensembl
CA405296679 rs1568462861	310	D>E		No	ClinGen Ensembl
TCGA novel	310	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA307733259 rs1047177800	310	D>N		No	ClinGen TOPMed
CA9375672 rs775649817	311	N>H		No	ClinGen ExAC TOPMed gnomAD
CA405296712 rs1200226653	312	E>D		No	ClinGen TOPMed gnomAD
rs1453885021 CA405296698	312	E>K		No	ClinGen gnomAD
TCGA novel	314	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs865961504 CA307733267	315	R>G		No	ClinGen Ensembl
rs369650457 CA9375704	318	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9375703 rs369650457	318	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9375702 rs763001272	318	I>V		No	ClinGen ExAC gnomAD
rs757056187 CA9375705	319	E>K		No	ClinGen ExAC TOPMed gnomAD
CA405297051 rs757056187	319	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1478059671 CA405297068	320	E>G		No	ClinGen TOPMed
TCGA novel	320	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405297096 rs1378372973	323	N>D		No	ClinGen gnomAD
CA405297101 rs1441411270	323	N>K		No	ClinGen gnomAD
rs968843676 CA307733450	325	N>S		No	ClinGen TOPMed gnomAD
CA9375707 rs376281522 COSM1240614	326	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA405297135 rs1304206013	326	A>V		No	ClinGen gnomAD
rs1402548300 CA405297138	327	L>M		No	ClinGen gnomAD
CA405297147 rs1453792547	328	L>F		No	ClinGen gnomAD
TCGA novel	329	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9375708 rs755152354	329	R>L		No	ClinGen ExAC TOPMed gnomAD
CA405297158 rs755152354	329	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs369112998 CA307733474	330	A>T		No	ClinGen ESP TOPMed gnomAD
rs1311622996 CA405297196	333	Q>*		No	ClinGen gnomAD
CA9375710 rs748160229	333	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1257979896 CA405297208	334	Q>R		No	ClinGen gnomAD
rs772188137 CA9375711	335	H>Y		No	ClinGen ExAC gnomAD
rs373384211 CA9375712	336	N>D		No	ClinGen ESP ExAC gnomAD
rs747530101 CA9375713	339	M>T		No	ClinGen ExAC gnomAD
rs1348617381 CA405297289	341	G>D		No	ClinGen TOPMed
CA405297286 rs1179113977	341	G>R		No	ClinGen gnomAD
CA307733509 rs976745887	342	E>K		No	ClinGen TOPMed
CA405297306 rs1177649600	343	G>S		No	ClinGen gnomAD
rs975615949 CA307733511	344	T>P		No	ClinGen Ensembl
CA307733517 rs922587314	345	R>Q		No	ClinGen TOPMed gnomAD
CA405297334 rs1244798550	346	Q>P		No	ClinGen gnomAD

No associated diseases with Q15853

1 regional properties for Q15853

Type	Name	Position	InterPro Accession
domain	Myc-type, basic helix-loop-helix (bHLH) domain	235 - 296	IPR011598

Functions

		Description
EC Number
Subcellular Localization	Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

8 GO annotations of molecular function

Name	Definition
bHLH transcription factor binding	Binding to a basic Helix-Loop-Helix (bHLH) superfamily of transcription factors, important regulatory components in transcriptional networks of many developmental pathways.
DNA-binding transcription factor activity	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific DNA binding	Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

7 GO annotations of biological process

Name	Definition
lactation	The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young.
late viral transcription	The transcription of the final group of viral genes of the viral life cycle, following middle transcription, or where middle transcription doesn't occur, following early transcription. Involves the transcription of genes encoding structural proteins.
lipid homeostasis	Any process involved in the maintenance of an internal steady state of lipid within an organism or cell.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of transcription from RNA polymerase II promoter by glucose	Any process involving glucose that activates or increases the rate of transcription from an RNA polymerase II promoter.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
regulation of transcription from RNA polymerase II promoter by glucose	Any process involving glucose that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P19484	TFEB	Transcription factor EB	Homo sapiens (Human)	PR
Q9R210	Tfeb	Transcription factor EB	Mus musculus (Mouse)	PR
Q08874	Mitf	Microphthalmia-associated transcription factor	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDMLDPGLDP	AASATAAAAA	SHDKGPEAEE	GVELQEGGDG	PGAEEQTAVA	ITSVQQAAFG
70	80	90	100	110	120
DHNIQYQFRT	ETNGGQVTYR	VVQVTDGQLD	GQGDTAGAVS	VVSTAAFAGG	QQAVTQVGVD
130	140	150	160	170	180
GAAQRPGPAA	ASVPPGPAAP	FPLAVIQNPF	SNGGSPAAEA	VSGEARFAYF	PASSVGDTTA
190	200	210	220	230	240
VSVQTTDQSL	QAGGQFYVMM	TPQDVLQTGT	QRTIAPRTHP	YSPKIDGTRT	PRDERRRAQH
250	260	270	280	290	300
NEVERRRRDK	INNWIVQLSK	IIPDCNADNS	KTGASKGGIL	SKACDYIREL	RQTNQRMQET
310	320	330	340
FKEAERLQMD	NELLRQQIEE	LKNENALLRA	QLQQHNLEMV	GEGTRQ